Varaico: Literature-Extracted Genetic Variants

AFF3

204 papers

RefSeq Summary

This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 g...

Pfam Domains

AF-4aa 20–173UCSCAF-4 proto-oncoprotein N-terminal region

AF-4aa 161–473UCSCAF-4 proto-oncoprotein N-terminal region

AF4_intaa 766–779UCSCAF4 interaction motif

AFF4_CHDaa 959–1226UCSCAFF4, C-terminal homology domain

Gene Aliases

HGNC Name

ALF transcription elongation factor 3

HGNC Previous Symbol

LAF4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_001386135.1

p.S419del1

c.1255_1257delGCT

Surrounding Variants

1 paper

NM_001386135.1

p.S419_G420ins1

c.1257_1258insAGC

1 paper

NM_001386135.1

p.S419ins2

c.1255_1256ins6

2 papers

NM_001386135.1

p.S421S

c.1263C>T

1 paper

NM_001386135.1

p.G412_S413del2

c.1234_1238del6

1 paper

NM_001386135.1

p.E429D

c.1287G>T

1 paper

NM_001386135.1

p.E429D

c.1287G>C

1 paper

NM_001386135.1

p.S409C

c.1226C>G

1 paper

NM_001386135.1

p.S431I

c.1292G>T

1 paper

NM_001386135.1

p.S434C

c.1301C>G

2 papers

NM_001386135.1

p.A396A

c.1188C>T

1 paper

NM_001386135.1

p.S443_E444ins3

c.1329_1330ins9

1 paper

NM_001025108.2

p.A421T

c.1261G>A